DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Correa-Cerro, L S

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. [electronic resource] - Journal of medical genetics Apr 2005 - 350-7 p. digital

Publication Type: Case Reports; Letter; Research Support, U.S. Gov't, P.H.S.

1468-6244

10.1136/jmg.2004.022749 doi


Adult
Alleles
Cells, Cultured
Cholesterol--metabolism
Codon, Nonsense--genetics
DNA Mutational Analysis
Female
Genotype
Humans
Infant, Newborn
Male
Oxidoreductases Acting on CH-CH Group Donors--genetics
Phenotype
Pregnancy
RNA, Messenger--metabolism
Smith-Lemli-Opitz Syndrome--blood